Do Personal Genomics Pass the Spit Test?

Hacking your genetic code can tell you a lot about yourselfas long as you can keep it to yourself

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About a year ago, the personal genomics firm 23andMe had a sale: for precisely $0 up front and a $9-per-month, one-year subscription, it would map my genome and give me access to the results. Now, I understand the limits of genetic profiling, and I have to consider the chance that my genetic details could potentially be used against me. And yet, part of that genetic code makes me incredibly curious about the mysteries of nature that science is illuminating daily. I had to do it. Also, I can't resist a good sale.

Once I registered with the 23andMe website—and picked a very strong password—the company sent me a test kit. I couldn't have the test kit sent to my office in New York City because the state has banned the service as an unlicensed medical-service tool, but the rules are more relaxed in my state of residence, New Jersey. I spit in the tube, sent it away, and a few weeks later logged onto the site to see what I was made of. Just five years ago, this would have cost a small fortune.

A $10,000 Price Tag, Down to just $99 In fact, the plummeting cost of genotyping is one of the amazing stories of our time. In 2008, when 23andMe launched, it cost $399 for a genomic profile, and it was competing against services that cost $5,000 to $10,000. Now the service begins at $99, plus the $9-per-month, one-year subscription. That is probably less than the co-pay on your last doctor's visit.

Note that what 23andme does is called genotyping because it detects only about 1 million Single Nucleotide Polymorphisms (SNPs), but there are at least 3 billion of these in the human genome. Sequencing your full genome is still prohibitively expensive for most people, but genotyping looks for a subset of markers. These markers are detected by a silicon chip developed by Illumina, which extracts DNA from your saliva. The chip is covered with 550,000 nanoscopic protein dots, and each dot detects a different SNP, or a different marker. It isn't a complete sequence, but it can tell you a lot about yourself.

Many of my genetic traits are of low importance: I have alcohol-flush reaction (Marker rs671), my earwax type is wet (Marker rs17822931), and I have a higher than average chance of asparagus metabolite detection (Marker rs4481887). Also, I have a "typical chance" of going bald, which photographic evidence suggests is an understatement.

Understanding How to Read the Numbers But there are nuggets that could be useful, like my increased sensitivity to Warfarin, a popular blood- thinner medication. As for my higher odds of heroin addiction (Marker: rs1799971), watching Requiem for a Dream was warning enough to keep me scared straight.

Some of the results will be restricted, particularly those related to diseases with no known cure like Parkinson's or Alzheimer's, but you can unlock these results if you want to. But you have to know how to read these numbers. My 33.9 percent risk for atrial fibrillation was heart-stopping, until I realized the average risk was up at 27.2 percent.

And 23andMe is constantly updating your profile when new studies come out. Checking my profile today, I see that one of the scarier parts of my profile was updated with new data on April 19, 2012. I have five reported markers for age-related macular degeneration. The average man of European ancestry has a 6.5 in 100 chance of developing AMD between the ages of 43 and 79. My chances are an eye-popping 11.9 out of 100, or 1.81 times the average.

Data like this, and the concordant misunderstandings it generates, are exactly what worries the medical community about personal genomics. After all, this isn't a diagnosis. It is just an indicator, a piece of data. Among men with my genetic markers, 88 out of 100 don't get the disease they are at risk for. Nor is there any indicator about the severity or time of onset. In short, there is no context. Even so, it is useful information to have.

Note to Self: Eat More Veggies For example, there is no cure for AMD, but there are treatments that can slow its progress. There are also lifestyle changes that can help, including, you guessed it, a diet rich in fruits and vegetables. Smoking also drives up your risk for AMD (it might cause cancer, too). Clearly, there is an opportunity in knowing data that could help me make significant changes to improve my health and increase my longevity. At the very least, I should really stop putting off an appointment with the eye doctor.

Whatever the limits of personal genomics, there are two important trends. First, it encourages people to be more involved in personal health management. There is no doubt that consumers will need the help of medical professionals to interpret and treat the conditions uncovered by genetic profiling, but ultimately, we have to be responsible for our own bodies. Knowing your genomics profile can help you do that.

The other opportunity here exists within the massive data set itself. In the three years since 23andMe launched, it has sequenced thousands of people. That is a treasure trove of genetic data that could be used to find all sorts of genetic associations. Earlier this month, a study published in the journal Plosone.org detailed SNP variants that are commonly associated with hyperthyroidism. Note, this study was based only on the data provided by the 23andMe customer base; no other data collection was necessary. This kind of computational research could change how science is done by finding associations that would be impossible to detect without a huge data set.

For the individual, I think this information could offer great insights, but only if we learn to put them in proper perspective. We need to understand the inevitable consequences of environmental factors and the complex concepts of risk and probability. Above all else, we need to remember that genetic indicators are not certainties, and sometimes the science is just wrong.

After all, my rs1800497 marker seems to indicate that I have a difficult time learning from my errors.

Dan Costa is the Editor-in-Chief of PCMag.com and the Senior Vice President of Content for Ziff-Davis. He oversees the editorial operations for PCMag.com, Geek.com, ExtremeTech.com as well as PCMag's network of blogs, including AppScout and SecurityWatch. Dan makes frequent appearances on local, national, and international news programs, including CNN, MSNBC, FOX, ABC, and NBC where he shares his perspective on a variety of technology trends.
Dan began working at PC Magazine in 2005 as a senior editor, covering consumer electronics, blogging on Gearlog.com, and serving as...
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